ClinVar Miner

List of variants reported as benign for chorioretinitis

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020461.4(TUBGCP6):c.4315+20T>C rs6537642 0.96249
NM_020461.4(TUBGCP6):c.1700T>C (p.Leu567Ser) rs4838865 0.81410
NM_014264.5(PLK4):c.694T>A (p.Ser232Thr) rs3811740 0.71105
NM_020461.4(TUBGCP6):c.4129A>G (p.Thr1377Ala) rs11703226 0.45122
NM_020461.4(TUBGCP6):c.24C>T (p.Phe8=) rs5771270 0.31375
NM_014444.5(TUBGCP4):c.1280-24T>C rs999026 0.28568
NM_014444.5(TUBGCP4):c.1014+15G>A rs4608311 0.26487
NM_020461.4(TUBGCP6):c.4090A>T (p.Ser1364Cys) rs5771107 0.12667
NM_020461.4(TUBGCP6):c.4821+20G>A rs11912397 0.11469
NM_020461.4(TUBGCP6):c.5287C>T (p.Arg1763Trp) rs35381394 0.07476
NM_014264.5(PLK4):c.2490G>T (p.Glu830Asp) rs17012739
NM_020461.4(TUBGCP6):c.4317C>A (p.Ser1439=) rs79022493
NM_020461.4(TUBGCP6):c.4861G>C (p.Val1621Leu) rs4838864

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.